Visualization of regulatory element with DNMs in transcripts



Visualization of de novo variants in transcripts


Visualization of original de novo CNV set
   There is no corresponding data published yet, we will update it when such data available.

Transcripts
Transcript ID Transcript exon region Coding exon region
ENST00000297265 [[82644668, 82645051], [82665298, 82665476], [82667604, 82667719], [82670376, 82670530], [82670714, 82671750]] [[82644861, 82645051], [82665298, 82665476], [82667604, 82667719], [82670376, 82670530], [82670714, 82670779]]
NM_152284 [[82644687, 82645051], [82665298, 82665476], [82667604, 82667719], [82670376, 82670530], [82670714, 82671750]] [[82644861, 82645051], [82665298, 82665476], [82667604, 82667719], [82670376, 82670530], [82670714, 82670779]]
Promoter
Chrom Start End Description
chr8 82644557 82644597 CAGE_peak_3_at_CHMP4C_5end
chr8 82644669 82644738 CAGE_peak_1_at_CHMP4C_5end
chr8 82644741 82644791 CAGE_peak_2_at_CHMP4C_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr8 GH08I081730 81730627 81734455 2.2 [{'connected_gene': 'CHMP4C', 'score': 557.35}, {'connected_gene': 'ZFAND1', 'score': 550.77}, {'connected_gene': 'IMPA1', 'score': 25.19}, {'connected_gene': 'FABP5', 'score': 4.3}]
chr8 GH08I081745 81745266 81745415 0.43 [{'connected_gene': 'CHMP4C', 'score': 0.39}, {'connected_gene': 'ZFAND1', 'score': 0.39}, {'connected_gene': 'ENSG00000253334', 'score': 0.25}]
chr8 GH08I081780 81780801 81781000 0.72 [{'connected_gene': 'CHMP4C', 'score': 16.05}, {'connected_gene': 'SNX16', 'score': 11.66}, {'connected_gene': 'ZFAND1', 'score': 11.26}, {'connected_gene': 'ENSG00000253334', 'score': 0.39}]
chr8 GH08I081746 81745481 81746434 0.46 [{'connected_gene': 'CHMP4C', 'score': 47.52}, {'connected_gene': 'SNX16', 'score': 6.12}, {'connected_gene': 'ZFAND1', 'score': 0.39}, {'connected_gene': 'ENSG00000253334', 'score': 0.25}]
chr8 GH08I080809 80809888 80811000 0.85 [{'connected_gene': 'CHMP4C', 'score': 12.36}, {'connected_gene': 'ENSG00000272518', 'score': 11.5}, {'connected_gene': 'RNU11-6P', 'score': 10.35}, {'connected_gene': 'HMGB1P41', 'score': 0.77}, {'connected_gene': 'GC08M080788', 'score': 0.34}, {'connected_gene': 'ZNF704', 'score': 0.21}]
chr8 GH08I081719 81719914 81722364 1.99 [{'connected_gene': 'ZFAND1', 'score': 550.39}, {'connected_gene': 'IMPA1', 'score': 25.3}, {'connected_gene': 'CHMP4C', 'score': 8.7}, {'connected_gene': 'ENSG00000280193', 'score': 0.34}]
chr8 GH08I081630 81630170 81635456 1.37 [{'connected_gene': 'IMPA1P1', 'score': 550.77}, {'connected_gene': 'IMPA1', 'score': 14.05}, {'connected_gene': 'ZFAND1', 'score': 9.51}, {'connected_gene': 'CHMP4C', 'score': 4.98}, {'connected_gene': 'SLC10A5P1', 'score': 0.77}]
chr8 GH08I081781 81780586 81780755 0.74 [{'connected_gene': 'SNX16', 'score': 19.85}, {'connected_gene': 'CHMP4C', 'score': 16.05}, {'connected_gene': 'ZFAND1', 'score': 11.26}, {'connected_gene': 'ENSG00000253334', 'score': 0.39}]
chr8 GH08I081783 81783262 81784489 0.63 [{'connected_gene': 'SNX16', 'score': 22.86}, {'connected_gene': 'CHMP4C', 'score': 6.82}, {'connected_gene': 'FABP5', 'score': 5.23}, {'connected_gene': 'ENSG00000253334', 'score': 0.44}, {'connected_gene': 'ZFAND1', 'score': 0.23}]
chr8 GH08I081768 81768201 81768600 0.69 [{'connected_gene': 'SNX16', 'score': 14.61}, {'connected_gene': 'IMPA1', 'score': 6.91}, {'connected_gene': 'CHMP4C', 'score': 5.07}, {'connected_gene': 'ENSG00000253334', 'score': 0.34}, {'connected_gene': 'ZFAND1', 'score': 0.28}]
chr8 GH08I081840 81840882 81843335 2.04 [{'connected_gene': 'SNX16', 'score': 611.42}, {'connected_gene': 'LOC105375928', 'score': 550.77}, {'connected_gene': 'ZFAND1', 'score': 23.36}, {'connected_gene': 'HNRNPA1P36', 'score': 21.58}, {'connected_gene': 'LINC02235', 'score': 8.51}, {'connected_gene': 'CHMP4C', 'score': 6.95}]
chr8 GH08I081421 81421583 81423440 0.31 [{'connected_gene': 'PMP2', 'score': 19.52}, {'connected_gene': 'FABP4', 'score': 5.01}, {'connected_gene': 'CHMP4C', 'score': 4.5}, {'connected_gene': 'ENSG00000253859', 'score': 0.37}, {'connected_gene': 'LOC105375926', 'score': 0.2}]
chr8 GH08I081643 81643638 81644492 0.56 [{'connected_gene': 'IMPA1', 'score': 20.79}, {'connected_gene': 'CHMP4C', 'score': 10.97}, {'connected_gene': 'ZFAND1', 'score': 10.97}, {'connected_gene': 'SLC10A5P1', 'score': 0.44}, {'connected_gene': 'GC08P081673', 'score': 0.31}]
chr8 GH08I081708 81708686 81708835 0.49 [{'connected_gene': 'IMPA1', 'score': 12.01}, {'connected_gene': 'ENSG00000280193', 'score': 0.39}, {'connected_gene': 'CHMP4C', 'score': 0.34}, {'connected_gene': 'ZFAND1', 'score': 0.34}]
chr8 GH08I081661 81661963 81664669 0.38 [{'connected_gene': 'IMPA1', 'score': 59.51}, {'connected_gene': 'CHMP4C', 'score': 15.32}, {'connected_gene': 'GC08P081673', 'score': 0.39}, {'connected_gene': 'SLC10A5P1', 'score': 0.31}]
chr8 GH08I081685 81685601 81686935 2.01 [{'connected_gene': 'IMPA1', 'score': 582.32}, {'connected_gene': 'CHMP4C', 'score': 5.84}, {'connected_gene': 'GC08P081673', 'score': 0.39}]
chr8 GH08I081692 81692851 81695958 1.22 [{'connected_gene': 'ENSG00000280193', 'score': 550.77}, {'connected_gene': 'SLC10A5', 'score': 550.77}, {'connected_gene': 'IMPA1', 'score': 25.85}, {'connected_gene': 'CHMP4C', 'score': 21.07}, {'connected_gene': 'ZFAND1', 'score': 19.21}]